Variant report

Variant	rs12694868
Chromosome Location	chr2:231301134-231301135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231299092..231301889-chr2:231304564..231307133,2	K562	blood:
2	chr2:231292379..231294379-chr2:231300867..231302513,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10207273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694864	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694866	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694869	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017297	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12694868	LOC93349	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231284200-231304000	Weak transcription	NH-A	brain
3	chr2:231284600-231306200	Weak transcription	HMEC	breast
4	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
5	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
6	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
7	chr2:231294000-231301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:231295200-231309200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:231295400-231306400	Weak transcription	HSMM	muscle
12	chr2:231295800-231307800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:231295800-231309000	Weak transcription	Small Intestine	intestine
14	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
15	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:231296200-231301200	Weak transcription	Lung	lung
17	chr2:231296200-231301200	Weak transcription	Ovary	ovary
18	chr2:231296200-231308400	Weak transcription	Gastric	stomach
19	chr2:231296200-231309200	Weak transcription	Fetal Stomach	stomach
20	chr2:231296200-231309200	Weak transcription	Spleen	Spleen
21	chr2:231296400-231307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:231296600-231303800	ZNF genes & repeats	GM12878-XiMat	blood
23	chr2:231298200-231301200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:231299200-231301800	ZNF genes & repeats	Dnd41	blood
25	chr2:231299400-231301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr2:231299600-231308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:231299800-231301600	Weak transcription	NHDF-Ad	bronchial
28	chr2:231299800-231301800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:231299800-231306000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:231300200-231301200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:231300200-231301400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr2:231300200-231301400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr2:231300200-231301400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr2:231300200-231301400	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr2:231300200-231301400	ZNF genes & repeats	Fetal Thymus	thymus
36	chr2:231300200-231301600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr2:231300200-231301800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:231300200-231301800	ZNF genes & repeats	Liver	Liver
39	chr2:231300200-231302600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr2:231300200-231303600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:231300200-231304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:231300400-231301200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:231300400-231301400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:231300400-231301400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr2:231300400-231301400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:231300400-231301400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr2:231300400-231301400	ZNF genes & repeats	Left Ventricle	heart
48	chr2:231300400-231301400	ZNF genes & repeats	Pancreas	Pancrea
49	chr2:231300400-231301400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
50	chr2:231300400-231301400	ZNF genes & repeats	Thymus	Thymus

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